Use of an Ultra-rapid BRCA1/2 Status Screening Test in Diagnostic and Theranostic Indication: Performance and Interest for Patients and Practitioners

Обзор

The time taken to obtain the results of germline mutations in BRCA1 and BRCA2 has become a major issue in adapting the therapeutic management of patients, particularly those with breast cancer. The time taken to obtain the results of BRCA1/2 tests in routine laboratories with a view to personalised treatment can range from a few weeks to a few months. The waiting time required to obtain results is likely to cause stress and anxiety in cancer patients. The investigators hypothesise that ultra-rapid testing can reduce anxiety about patients' genetic status and improve their mental well-being. The main objective of this project is to compare the results obtained with an ultra-fast kit developed by O.N.T with those obtained with the current gold standard, NGS sequencing.

Вмешательства

• Другое Questionnaires
  3 questionnaires to allowed to assess satisfaction and acceptance of the nanopore ultrafast test by practitioners and anxiety of results by patients : * STAI-Y (State-Trait Anxiety Inventory) * Patient's Questionnaire * Practitioner's questionnaire
• Другое Communication of the results of the BRCA1/2 ultra rapid test
  Communication of the results of the BRCA1/2 ultra rapid test during a consultation 1 to 2 weeks after the test

Первичные конечные точки

• Compare the results obtained with an ultra-rapid kit BRCA1/2 with those obtained with the current gold standard, by checking the sensitivity, specificity and the rate of patients correctly classified for BRCA1 and 2 status [Срок оценки: During 2 months]

Вторичные конечные точки (4)

• Evaluate the sensitivity and specificity of the ultra-rapid BRCA1/2 test [Срок оценки: During 2 months]
• To assess the impact on patients' mental well-being (anxiety or reassurance) using the State-Trait Anxiety Questionnaire (STAI-Y) [Срок оценки: During 2 months]
• Evaluate clinician satisfaction with satisfaction scale used in genetic counselling [Срок оценки: During 2 months]
• Evaluate patient satisfaction used in genetic counselling [Срок оценки: During 2 months]

Критерии участия

Критерии включения

• Age ≥ 18 years
• Indication for oncogenetic consultation with a wide panel test including BRCA1/2 (gold standard) as part of the standard theranostic and diagnostic management of breast cancer.
• The patient agrees to take part in the study, to follow all the study procedures and to complete the questionnaires sent during the consultation or by email.
• Diagnosis of the disease ≤ 6 months
• The patient must be affiliated to the social security system.

Критерии исключения

• Concomitant disorder or condition likely to compromise understanding of study information or completion of questionnaires
• Patients who do not have an email address and/or do not have internet access or tools to connect to the internet
• Women who are pregnant, may become pregnant or are breast-feeding
• Persons deprived of their liberty or under guardianship (including curatorship)
• Inability to undergo trial monitoring for geographical, social or psychological reasons.

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Когортное

Центры проведения

Франция · 2 центра

• Centre Georges-François Leclerc — Dijon
• Institut Rafaël — Levallois-Perret

Идентификаторы

NCT: NCT06111417 · 2023-A02176-39

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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